Article
Analysis of the SMN and NAIP genes in slovak spinal muscular atrophy patients.
Human heredity - 1 Jan 2000
Zat'ková A, Hahnen E, Wirth B, Kádasi L
Abstract excerpt
We identified homozygous absence of exon 7 of the telomeric copy of the survival motor neuron gene (telSMN) in 88.4% (38/43) of spinal muscular atrophy (SMA) patients from Slovakia. Additional deletions within the neuronal apoptosis inhibitory protein (NAIP) gene were found in 38.5% of type I, 12.5% of type II and never in type III SMA patients. Neither the SMN nor the NAIP gene was deleted in 81 healthy...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
